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Methylenetetrahydrofolate reductase gene polymorphism: relation to blood pressure and cerebrovascular disease
Y Nakata1, T Katsuya, S Takami
1Department of Geriatric Medicine, Osaka University Medical School, Suita, Japan.
Insights
The MTHFR gene
Area of Science:
- Genetics
- Cardiovascular Disease
- Neurology
Background:
- Hyperhomocysteinemia is linked to increased risk of ischemic heart and cerebrovascular diseases.
- Genetic variations in methylenetetrahydrofolate reductase (MTHFR) can affect enzyme activity and homocysteine levels.
- A common MTHFR gene mutation (677C to T) is associated with coronary artery disease risk.
Purpose of the Study:
- To investigate the MTHFR gene as a potential genetic risk factor for cerebrovascular disease (CVD).
- To examine the association between MTHFR gene polymorphism and CVD in patients with cerebral infarction or hemorrhage.
Main Methods:
- A case-control study was conducted with patients diagnosed with cerebral infarction or cerebral hemorrhage.
- Genotype distribution of the MTHFR gene was analyzed in cases and controls.
- Association between MTHFR mutation and clinical risk factors for CVD, including hypertension, was assessed.
Main Results:
- No significant difference in MTHFR gene genotype distribution was found between CVD cases and controls.
- Subjects with the Val allele of the MTHFR gene exhibited significantly lower blood pressure.
- The frequency of the Val/Val genotype was significantly lower in hypertensive subjects compared to controls.
Conclusions:
- The MTHFR Val/Val homozygous state may increase thrombosis risk but lowers blood pressure.
- This dual effect potentially explains the lack of increased CVD risk observed in the study.
- MTHFR gene polymorphism may have a complex role in cerebrovascular disease development.
Abstract:
Hyperhomocysteinemia is reported to be associated with an increase in the incidence of ischemic heart disease and cerebrovascular disease. Genetic aberrations in methylenetetrahydrofolate reductase (MTHFR) may account for reduced enzyme activity and elevated plasma homocysteine level. A recent report revealed that a common mutation (677C to T; Ala to Val) in the MTHFR gene is associated with decreased specific MTHFR activity and with increased risk for coronary artery disease in the homozygous state (Val/Val). In the present study, we investigated whether the MTHFR gene is a genetic risk factor for cerebrovascular disease (CVD). To undertake a case-control study, we selected the patients with cerebral infarction (n = 48) or cerebral hemorrhage (n = 35) and examined the association between MTHFR gene polymorphism and CVD. The genotype distribution of the MTHFR gene was not significantly different between cases and controls. Because the possibility of matching the morbidity of the effects of hypertension, the lack of association could not be excluded in the first study; however, we also examined whether the MTHFR mutation was associated with any clinical risk factor for CVD or with hypertension. It turned out that the subjects with the Val allele of the MTHFR gene had significantly lower blood pressure than the subjects with other genotypes in the general population (P = .02), and that the frequency of the Val/Val genotype in hypertensive subjects (n = 173) was significantly lower than in control subjects (n = 184) (P = .03). From these results, we conclude that the Val/Val homozygous state of the MTHFR gene increased the risk of thrombosis, but reduced the blood pressure, which resulted in the lack of increased risk for CVD.